Variant report

Variant	esv33530
Chromosome Location	chr14:105470255-105472198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105448113..105449625-chr14:105469854..105471847,2	MCF-7	breast:
2	chr14:105453659..105455413-chr14:105470278..105471819,2	K562	blood:
3	chr14:105468567..105471217-chr14:105472413..105474662,2	K562	blood:
4	chr14:105467460..105471294-chr14:105485588..105488885,3	K562	blood:
5	chr14:105470658..105473658-chr14:105481762..105484641,3	K562	blood:
6	chr14:105468423..105470869-chr14:105484472..105486561,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170779	chromatin interactions
ENSG00000140104	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375223464	chr14:105470430-105470431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186335148	chr14:105470437-105470438	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75466616	chr14:105470440-105470441	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28391579	chr14:105470463-105470464	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs533802553	chr14:105470465-105470466	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs56387836	chr14:105470489-105470490	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191238047	chr14:105470492-105470493	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576756315	chr14:105470521-105470522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574533991	chr14:105470542-105470543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539381243	chr14:105470556-105470557	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559290367	chr14:105470582-105470583	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575913623	chr14:105470583-105470584	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs544776441	chr14:105470621-105470622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561450905	chr14:105470625-105470626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183463138	chr14:105470637-105470638	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs142511289	chr14:105470715-105470716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185725738	chr14:105470775-105470776	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532364965	chr14:105470780-105470781	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs376371346	chr14:105470836-105470837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567945404	chr14:105470919-105470920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs36014607	chr14:105470963-105470964	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562400694	chr14:105470990-105470991	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531416219	chr14:105471001-105471002	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560467729	chr14:105471006-105471007	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139431005	chr14:105471007-105471008	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191003702	chr14:105471013-105471014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs183187071	chr14:105471037-105471038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547459027	chr14:105471043-105471044	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570508145	chr14:105471046-105471047	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs145656982	chr14:105471072-105471073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs186800095	chr14:105471078-105471079	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs559302327	chr14:105471141-105471142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191272486	chr14:105471237-105471238	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34235009	chr14:105471287-105471288	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs8008683	chr14:105471295-105471296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs554894462	chr14:105471301-105471302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182632478	chr14:105471365-105471366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546134680	chr14:105471378-105471379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10646181	chr14:105471379-105471380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12587283	chr14:105471407-105471408	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs8013233	chr14:105471408-105471409	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560634875	chr14:105471513-105471514	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147726462	chr14:105471527-105471528	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142521145	chr14:105471528-105471529	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545754253	chr14:105471531-105471532	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562462349	chr14:105471562-105471563	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531526669	chr14:105471569-105471570	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192849396	chr14:105471616-105471617	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185246553	chr14:105471644-105471645	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527478550	chr14:105471645-105471646	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105452800-105472800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:105452800-105473600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:105452800-105473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:105453200-105473200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:105453200-105475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:105453200-105485400	Weak transcription	Fetal Kidney	kidney
7	chr14:105453400-105472200	Weak transcription	Dnd41	blood
8	chr14:105453400-105472800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:105453400-105473600	Weak transcription	Colonic Mucosa	Colon
10	chr14:105453400-105474000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:105453400-105475600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:105453400-105475800	Weak transcription	K562	blood
13	chr14:105453400-105476200	Weak transcription	NHDF-Ad	bronchial
14	chr14:105453400-105479400	Weak transcription	Brain Substantia Nigra	brain
15	chr14:105453600-105471800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:105453600-105471800	Weak transcription	HMEC	breast
17	chr14:105453800-105472000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:105453800-105473400	Weak transcription	Primary B cells from cord blood	blood
19	chr14:105453800-105474000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:105453800-105476400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:105453800-105478400	Weak transcription	Fetal Brain Male	brain
22	chr14:105458600-105476200	Weak transcription	Brain Angular Gyrus	brain
23	chr14:105458800-105473400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:105459800-105473400	Weak transcription	Hela-S3	cervix
25	chr14:105459800-105475600	Weak transcription	Left Ventricle	heart
26	chr14:105460200-105472200	Weak transcription	Spleen	Spleen
27	chr14:105460200-105472800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:105460200-105477600	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:105460400-105473800	Weak transcription	Fetal Lung	lung
30	chr14:105460400-105476200	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:105460600-105473000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:105460600-105473400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:105460800-105473600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:105461000-105472600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:105461000-105475600	Weak transcription	Adipose Nuclei	Adipose
36	chr14:105461000-105475800	Weak transcription	Fetal Heart	heart
37	chr14:105461000-105477200	Weak transcription	Right Ventricle	heart
38	chr14:105462000-105473400	Weak transcription	Osteobl	bone
39	chr14:105462200-105472800	Weak transcription	Fetal Intestine Large	intestine
40	chr14:105462600-105472200	Weak transcription	Fetal Brain Female	brain
41	chr14:105462600-105475600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:105462600-105475600	Weak transcription	Ovary	ovary
43	chr14:105462800-105476000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:105463000-105472000	Weak transcription	NHLF	lung
45	chr14:105463000-105472400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:105463200-105472000	Weak transcription	Gastric	stomach
47	chr14:105463200-105472800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:105463200-105476400	Weak transcription	Brain Anterior Caudate	brain
49	chr14:105463400-105473200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr14:105463400-105481800	Weak transcription	Stomach Mucosa	stomach

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